ClinVar Miner

Submissions for variant NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) (rs104894425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000004583 SCV000915652 pathogenic Leukoencephalopathy with vanishing white matter 2018-09-21 criteria provided, single submitter clinical testing The EIF2B2 c.638A>G (p.Glu213Gly) variant has been reported in three studies in which it is found in a total of 24 individuals with childhood ataxia with central nervous system hypomyelination/vanishing white matter including 15 homozygotes (including 11 siblings from five families) and nine compound heterozygotes (Leegwater et al. 2001; Fogli et al. 2004; Ohlenbusch et al. 2005). The p.Glu213Gly variant was absent from 307 controls (Leegwater et al. 2001, Fogli et al. 2004, Ohlenbusch et al. 2005) and is reported at a frequency of 0.000087 in the European (non-Finnish) population of the Genome Aggregation Database. Li et al. (2004) demonstrated in transfected HEK 293 cells that the p.Glu213Gly variant does not affect assembly of the EIF2B translation initiation factor complex but it does decrease EIF2B2 enzyme activity to 40-60% of wild type. In vivo assays also showed that the p.Glu213Gly variant enhanced eIF2 binding (Li et al. 2004). Based on the collective evidence, the p.Glu213Gly variant is classified as pathogenic for childhood ataxia with central nervous system hypomyelination/vanishing white matter.
OMIM RCV000004583 SCV000024757 pathogenic Leukoencephalopathy with vanishing white matter 2003-06-01 no assertion criteria provided literature only
OMIM RCV000004584 SCV000024758 pathogenic Ovarioleukodystrophy 2003-06-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000004583 SCV000986730 not provided Leukoencephalopathy with vanishing white matter no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 03/14/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GeneReviews RCV000004583 SCV000996320 pathogenic Leukoencephalopathy with vanishing white matter 2019-04-01 no assertion criteria provided literature only Dutch founder variant, associated w/relatively mild disease

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